Incidental Mutation 'R4564:Gfra1'
| ID |
343275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfra1
|
| Ensembl Gene |
ENSMUSG00000025089 |
| Gene Name |
glial cell line derived neurotrophic factor family receptor alpha 1 |
| Synonyms |
GFR alpha-1, GDNFR-alpha |
| MMRRC Submission |
041789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58224036-58444341 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 58227682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026076]
[ENSMUST00000129100]
[ENSMUST00000140141]
[ENSMUST00000152507]
[ENSMUST00000152507]
[ENSMUST00000169850]
|
| AlphaFold |
P97785 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026076
|
| SMART Domains |
Protein: ENSMUSP00000026076
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129100
|
| SMART Domains |
Protein: ENSMUSP00000117196
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
149 |
228 |
6.55e-24 |
SMART |
|
GDNF
|
238 |
332 |
1.62e-28 |
SMART |
|
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140141
|
| SMART Domains |
Protein: ENSMUSP00000123022
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143595
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152507
|
| SMART Domains |
Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152507
|
| SMART Domains |
Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169850
|
| SMART Domains |
Protein: ENSMUSP00000130128
Gene: ENSMUSG00000025089
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
G |
4: 32,563,338 (GRCm39) |
S602A |
probably damaging |
Het |
| Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
| Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
| Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
| Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
| Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
| Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,018,586 (GRCm39) |
Y91F |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
| Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
| Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
| Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
| Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
| Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
| Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
| Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
| Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
| Skint4 |
C |
T |
4: 111,977,066 (GRCm39) |
T152M |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
| Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
| Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
| Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
| Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
| Zfp346 |
A |
C |
13: 55,261,520 (GRCm39) |
R103S |
probably damaging |
Het |
|
| Other mutations in Gfra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Gfra1
|
APN |
19 |
58,252,337 (GRCm39) |
splice site |
probably benign |
|
|
IGL01633:Gfra1
|
APN |
19 |
58,255,479 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02675:Gfra1
|
APN |
19 |
58,441,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Gfra1
|
APN |
19 |
58,441,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Gfra1
|
APN |
19 |
58,441,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Gfra1
|
APN |
19 |
58,441,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Gfra1
|
UTSW |
19 |
58,286,999 (GRCm39) |
intron |
probably benign |
|
|
R0245:Gfra1
|
UTSW |
19 |
58,288,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0652:Gfra1
|
UTSW |
19 |
58,288,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0697:Gfra1
|
UTSW |
19 |
58,258,555 (GRCm39) |
missense |
probably benign |
|
|
R0699:Gfra1
|
UTSW |
19 |
58,258,555 (GRCm39) |
missense |
probably benign |
|
|
R1344:Gfra1
|
UTSW |
19 |
58,226,849 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1418:Gfra1
|
UTSW |
19 |
58,226,849 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1468:Gfra1
|
UTSW |
19 |
58,440,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Gfra1
|
UTSW |
19 |
58,440,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2001:Gfra1
|
UTSW |
19 |
58,288,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Gfra1
|
UTSW |
19 |
58,227,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3416:Gfra1
|
UTSW |
19 |
58,255,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Gfra1
|
UTSW |
19 |
58,255,456 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4727:Gfra1
|
UTSW |
19 |
58,252,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4755:Gfra1
|
UTSW |
19 |
58,441,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Gfra1
|
UTSW |
19 |
58,227,687 (GRCm39) |
missense |
probably benign |
|
|
R6225:Gfra1
|
UTSW |
19 |
58,226,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Gfra1
|
UTSW |
19 |
58,442,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Gfra1
|
UTSW |
19 |
58,288,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7624:Gfra1
|
UTSW |
19 |
58,226,878 (GRCm39) |
missense |
probably benign |
|
|
R7718:Gfra1
|
UTSW |
19 |
58,441,889 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9659:Gfra1
|
UTSW |
19 |
58,441,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Gfra1
|
UTSW |
19 |
58,441,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGGTTTCATAGGATCTCAGAG -3'
(R):5'- GGGCTCCTATATTTATCATCTGGC -3'
Sequencing Primer
(F):5'- CTCAGAGTTTCCTAGCATGGAAC -3'
(R):5'- CCCTGCCCTAGACTGTTGATTAATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation